Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133643425G>A , CM000671.2:g.133643425G>A | GRCh38 |
| NC_000009.11:g.136508547G>A , CM000671.1:g.136508547G>A | GRCh37 |
| NC_000009.10:g.135498368G>A | NCBI36 |
| NG_008645.1:g.12063G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000787.4:c.757G>A MANE Select | NP_000778.3:p.Val253Ile |
| ENST00000393056.8:c.757G>A MANE Select | ENSP00000376776.2:p.Val253Ile |
| NM_000787.3:c.757G>A | NP_000778.3:p.Val253Ile |
| ENST00000263611.2:c.568G>A | ENSP00000263611.2:p.Val190Ile |
| ENST00000263611.3:c.604G>A | ENSP00000263611.3:p.Val202Ile |
| ENST00000393056.6:c.757G>A | ENSP00000376776.2:p.Val253Ile |